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1/18

β THALASSEMIA MAYORCase report

Amalia Khairunisa Hsb (090100006)

Albert (090100212)

Pembimbingdr. Hj. Rita Evalina, Sp.A (K)

1


2/18

Thalassemia

a heterogeneous group of inheritedconditions characterized by defects in the

synthesis of one or more of the globinchains that form the haemoglobin tetramer

disorders of Hb synthesis

Worldwide ----- 3%carry β thalassemiagenes 15 millions

have clinical features

β thalassemia ---common insouthern Europe, India,

Africa

α thalasemia----common in Southeast

Asia


3/18

P T O P H Y S I O L O G Y

Selective

survival of HbF-

containing Cell

22 Hbf

Precipitati

on

Hemolysis

Excess

Destructio

n of red

blood cell

precursor

sSplenomegaly

(pooling,plasma volume

expansion)

Ineffective

erythropoiesis

Anemia

High oxygen

affinity of red

celisTissue hypoxia

Erytropoietin

Marrowexpansion

TransfusionIncreased

iron

absorption

Iron

loading

Endocrine deficiencies

Cirrhosis Cardiac failure Death

Bone deformity

increased metabolic

rate Wasting Goul Folate

deficiency


4/18

USUAL

GENOTYPES

-GENE

NUMBER

CLINICAL

FEATURES

HEMOGLOBINELECTROPHORESIS

BIRTH > 6 MO

/ 4 NORMA

L NORMAL NORMAL

- / 3 SILENTCARRIE

R

0 – 3% HbBart’s

NORMAL

-- / or

- / - 2

- THAL

TRAIT

2 – 10% Hb

Bart’s NORMAL

-- / - 1 Hb H

DISEASE

15 – 30% HbBart’s

Hb HPRESENT

-- / -- 0 FETALHYDRO

PS

> 75% HbBart,s

-

4

Classification

α-thalassemia β-thalassemia β0 β+

• Homozygousor compoundheterozygous

(0 0)• total lack of

Chainproduction

• total failure toproduce Hb A

• Homozygous(++) someproductions of

Hb A.

• Heterozygosity - Thal trait

- Thal minor

• Homozygosity - Thal major

transfusion dependent

• Thalassemia Intermedia


5/18

5

ClinicalManifestations

Failure to thrive

Anemia

Jaundice, gallstones

Abnormal facies, prominence of malareminences, exposure of upper central teeth

Growth retardation, delayed puberty

Leg ulcers

Skin bronzing

LaboratoryDiagnostics

Anemia : hypochromic,microcytic

Reticulocytosis

Hb electrophoresis: Hb F and A2 increased

Blood film: variation in red cell size and shape,pale (hypochromic) red cells, target

cells,basophillic stippling,nucleated red cells

Chromatography: HPLC

Bone marrow: megaloblastic (due to folatedepletion) ,erythroid

hyperplasia

DNA analysis


6/18

Complications

1. Chronic anemia in undertransfused or in untranfused thalasemia intermedia patients

2. Chronic transfusion with resultant hemosiderosis and hemochromatosis

3. Hyperplastic marrow,extramedullary hematopoiesis

4. Increased iron absorption and iron overload

- Fibrosis/cirrhosis of the liver liver failure

- Endocrine disturbances : growth retardation , pituitary failure with impaired

gonadotropins, hypothyroid, delayed puberty

- Skin hyperpigmentation

- Cardiac hemochromatosis cardiac failure5. Hypersplenism: plasma volume expansion, shortened red cell life, leukopenia

,thrombocytopenia

6. Osteoporosis

6


7/18

7

Treatment

Transfusion to maintain thepre-transfusion haemoglobin

level above 9 - 10,5 g/dL

Keep post transfusionHb not higher than 14 – 15

g/dL

Give ABO,Rh(D) compatible blood

Leucoreduced PRC or washed red cells

Keep record of red cell antibodies,transfusionreaction

Chelation Therapy Used: 1.Desferrioxamine

(Desferal) iv,sc2.Deferiprone :oral

Small dose of vit C may enhance

the efficacy of iron chelation

PrognosisThe prognosis depends

on the type and severity

of thalassemia.

The prognosis of patients with

thalassemia major is highly dependent

on the patient's adherence to long-

term treatment programs, namely thehypertransfusion program and life-

long iron chelation.

Treatment & Prognosis


8/18

CASE REPORT • Medical Record

• Name : AFJ

• Age : 10 years old

• Sex : Male

• Date of Admission : December, 6

th

2013• Address : Pasar baru’s village of general hospital street

• Main Complaint (Alloanamnesis)

• Pale (+)

• History :

• Pale was happened since 5 days before the patient came to thehospital.History of fever was found in the past 1 week ago. The characteristicof fever was recurrent, subfebris, and decreased with antipiretic drug. Feverwas not found when the patient came to the hospital

• History of defecating and urinating was found normally.

• History of cough was not found.

• History of spontan bleeding was not found.• History of diarrhea was not found. History of vomiting was not found.

• History of illness was not found. History of family illness was not found.

• History of occupation was a student. This patient was Hematology-Oncolgy’s patient with Thalasemia β Mayor diagnosed and got routine bloodtransfusion


9/18

Physical Examination

Generalized status

Body weight : 20 Kg BW/BL : 68,9%

Body length : 125 cm BW/Age : 80%

BL/Age : 97,6% Presens status

Sensorium : compos mentis

Blood Pressure : 90/60 mmHg

Heart Rate : 128 bpm

Temperature : 36, 7 oC

Respiratory rate : 28 bpm Anemic (+/+), Icteric (+), Edema (-), Dyspnea (-), Cyanosis (-).

Localized status

Head

Eye : Light reflex (+/+), isochoric pupil, Icteric sclera (+/+),

Paleness of inferior Palpebral conjunctiva (+/+)Ear/Mouth/Nose : normal

Neck : Lymph node enlargement (-), muchal rigidity (-)

Thorax : Symmetrical fusiformis. Epigastrial retraction (-).

HR : 128 bpm, reguler, murmur (-)

RR : 28 bpm, regular, crackles (-/-)


10/18

• Abdomen : Soepel. Peristaltic (+) normal. Liver was

palpabled, 3 cm under arcus costae dextra.

Spleen : S V - VI

• Extremities : Pulse 128 bpm, regular, adequate pressure and

• volume, warm acral, CRT < 3”, paleness of plantar andpalmar (+/+)

• Urogenital : Male, normal in appearance

Differential Diagnosis

Thalasemia β Mayor

Working Diagnosis

Thalasemia β Mayor

Management

• IVFD D 5% NaCl 0,45 % 10 gtt/’ mikro

• R/ Blood Transfusion 60 cc• Necessity of PRC (Hb target : 10 g%)

• PRC → 4 x BW x ΔHb

• → 4 x 20 kg x (10 – 3,9 g%)

• → 488 cc (500 cc)

• Transfusion capability with Hb < 5 = 3 cc/ kgBW → 60 cc / transfusion


11/18

Complete Blood Count (September, 03rd 2013)

Examination Unit Result Normal

Hemoglobin (HGB) g% 3.2 11.7 – 15.5

Eritrosit (RBC) 106/ mm3 1.34 4.20 - 4.87

Leukosit (WBC) 103/ mm3 5.20 4.5 – 11.0

Hematokrit % 11.50 38 – 44

Trombosit (PLT) 103/ mm3 243 150–

450

MCV Fl 85.80 85 – 95

MCH Pg 23.90 28 – 32

MCHC g% 27.80 33 - 35

RDW % 24.50 11.6 – 14.8

MPV fL 10.90 7.0 – 10.2

PCT % 0.27

PDW fL 14.4

Diftel Count

Neutrofil % 53.60 37 – 80

Limfosit % 33.80 20 – 40

Monosit % 11.20 2 – 8

Eosinofil % 0.20 1 – 6

Basofil % 1.20 0–

1

Neutrofil Absolut 103/µL 2.79 2.7 – 6.5

Limfosit Absolut 103/µL 1.76 1.5 – 3.7

Monosit Absolut 103/µL 0.58 0.2 – 0.4

Eosinofil Absolut 103/µL 0.01 0 – 0.10

Basofil Absolut 103/µL 0.06 0 – 0.1

Morfology

- Erythrocyte : Hypochromic Microcytic, tear drops (+) pencil cell (+)- Leucocyte : Normal- Thrombocyte : Normal

Kimia klinik (September, 03rd 2013)

Ginjal

Ureum

Kreatinin

mg/ dL

mg/ dL

9.10

0.25

< 50

0.5 – 0.9


12/18

December, 07th 2013 (1nd Day)

S Pale (+)

O Sensorium: Compos Mentis, T: 36.8 oCHead Eye : Light reflex (+/+), isochoric

pupil, Icteric sclera (+/+), Paleness ofinferior Palpebral conjunctiva (+/+).Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-),muchal rigidity (-)Thorax: Symmetrical fusiformis. Epigastrialretraction (-). HR : 94 bpm, reguler, murmur

(-). RR : 24 bpm, regular, crackles (-/-)Abdomen: Soepel. Peristaltic (+) normal.Liver was palpabled, 3 cm under arcuscostae dextra. Spleen : S V - VIExtremities : Pulse 94 bpm, regular,adequate pressure and volume, warmacral, CRT < 3”, paleness of plantar andpalmar (+/+)

Urogenital : Male, normal in appearance

A Thalasemia β Mayor

P -IVFD D5% Nacl 0,45%10 gtt/’ micro

-PRC transfusion 60 cc (I)


S Pale (+)

O Sensorium: Compos Mentis, T: 36.8 oCHead Eye : Light reflex (+/+), isochoricpupil, Icteric sclera (+/+), Paleness ofinferior Palpebral conjunctiva (+/+).Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-),muchal rigidity (-)Thorax: Symmetrical fusiformis. Epigastrialretraction (-). HR : 94 bpm, reguler, murmur(-). RR : 24 bpm, regular, crackles (-/-)Abdomen: Soepel. Peristaltic (+) normal.

Liver was palpabled, 3 cm under arcuscostae dextra. Spleen : S V - VIExtremities : Pulse 94 bpm, regular,adequate pressure and volume, warmacral, CRT < 3”, paleness of plantar andpalmar (+/+)Urogenital : Male, normal in appearance


P -IVFD D5% Nacl 0,45%10 gtt/’ micro

-PRC transfusion 60 cc (II)


13/18

Complete Blood Count (September, 07th 2013)


Hemoglobin (HGB) g% 6.60 11.7 – 15.5

Eritrosit (RBC) 106/ mm3 2.50 4.20 - 4.87

Leukosit (WBC) 103/ mm3 4.43 4.5 – 11.0

Hematokrit % 21.20 38 – 44

Trombosit (PLT) 103/ mm3 201 150 – 450

MCV Fl 84.80 85 – 95

MCH Pg 26.40 28 – 32

MCHC g% 31.10 33 - 35

RDW % 16.30 11.6 – 14.8

Diftel Count

Neutrofil % 68.00 37 – 80

Limfosit % 26.40 20 – 40

Monosit % 4.70 2 – 8


Basofil % 0.200 0 – 1 Neutrofil Absolut 103/µL 3.01 2.7 – 6.5





Morfology

- Erythrocyte : normochrom normocytic

- Leucocyte : Normal

Kimia klinik (September, 07th 2013)

Liver Function

Total Bilirubin mg/dL 8.19 < 1

Direct Bilirubin mg/dL 3.83 0 – 0.2

Alkali Phospatase (ALP) U/L 150 < 157

AST/SGOT U/L 82 < 32

ALT/SGPT U/L 91 < 31

Elektrolit

Calsium (Ca)

Phospor

Magnesium (Mg)

mg/dL

mEq/L

mEq/L

8.5

4.7

2.39

9.2 – 11.2

3.4 – 6.2

1.3 – 1.8

Imunoserologi

FSH ng/mL 3.36 Follicular phase :

3.5 – 12.5

LH μg/L 0.72 Follicular phase :

2.4 – 12.6

Hepatitis

HBsAg Negatif Negatif

Tiroid

T3 Total ng?mL 1.60 0.8 – 2

T4 Total μg/dL 9.45 5 – 14

TSH μIU/mL 2.260 0.27 – 4.2

Hepatitis A Profile

Anti HAV IgM Negatif Negatif

Hepatitis C

Anti HCV Negatif Negatif


14/18


S Pale (+) Decreased, Fever

O Sensorium: Compos Mentis, T: 36.8 oC

Head Eye : Light reflex (+/+), isochoric pupil,

Icteric sclera (+/+), Paleness of inferior

Palpebral conjunctiva (+/+).

Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-), muchal

rigidity (-)

Thorax: Symmetrical fusiformis. Epigastrial

retraction (-). HR : 94 bpm, reguler, murmur (-).


Abdomen: Soepel. Peristaltic (+) normal. Liver

was palpabled, 3 cm under arcus costae dextra.

Spleen : S V - VI

Extremities : Pulse 94 bpm, regular, adequate

pressure and volume, warm acral, CRT < 3”,

paleness of plantar and palmar (+/+)



P -IVFD D5% Nacl 0,45%

10 gtt/’ micro

-PRC transfusion 60 cc (III)

R/ -Culture Blood and urine

- Ceftazidine injection 1 gr/12

hours/IV


S Pale (+) Decreased, Fever

O Sensorium: Compos Mentis, T: 36.8 oC

Head Eye : Light reflex (+/+), isochoric pupil,

Icteric sclera (+/+), Paleness of inferior

Palpebral conjunctiva (+/+).

Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-), muchal

rigidity (-)

Thorax: Symmetrical fusiformis. Epigastrial

retraction (-). HR : 94 bpm, reguler, murmur (-).


Abdomen: Soepel. Peristaltic (+) normal. Liver

was palpabled, 3 cm under arcus costae dextra.Spleen : S V - VI

Extremities : Pulse 94 bpm, regular, adequate

pressure and volume, warm acral, CRT < 3”,

paleness of plantar and palmar (+/+)



P -IVFD D5% Nacl 0,45% 10 gtt/’micro

-Ceftazidine injection 1 gr/12

hours/IV

-Paracetamol 3 x 250 mg

-Exjade 250 mg 1-1-1

-As folat 1x1

-Vit C 1x1

-Vit E 1x1

-PRC transfusion 100 cc (IV)


15/18

Complete Blood Count (September, 10th 2013)


Hemoglobin (HGB) g% 10.50 11.7 – 15.5

Eritrosit (RBC) 106/ mm3 3.80 4.20 - 4.87

Leukosit (WBC) 103

/ mm3

3.61 4.5 – 11.0

Hematokrit % 31.50 38 – 44

Trombosit (PLT) 103/ mm3 222 150 – 450

MCV Fl 82.90 85 – 95

MCH Pg 27.60 28 – 32

MCHC g% 33.30 33 - 35

RDW % 14.90 11.6 – 14.8

Diftel Count

Neutrofil % 52.50 37 – 80

Limfosit % 38.00 20 – 40

Monosit % 7.80 2 – 8


Basofil % 0.300 0 – 1

Neutrofil Absolut 103/µL 1.90 2.7 – 6.5





Faal Hemostasis Ferritin ng/mL 4431.00 15 - 3000

Bone Age Result

Bone age was appropriate for the 14 years old girl

Normal bone modelling

Average girlEstradiol pg/mL 52.1 Follicular phase :

12.5 - 166

Cortisol μg/dL 19.6 6.2 – 19.4


16/18

September, 10th 2013 (8th Day)

S Pale (-), icteric sclera (+/+)

O Sensorium: Compos Mentis, T: 37 oC, BW: 24 kg

Head Eye : Light reflex (+/+), isochoric pupil, Icteric sclera (+/+), Paleness of inferior Palpebral conjunctiva (-/-). Ear/ Nose :

normal. Mouth: Lip mucous pale (+). Neck : Lymph node enlargement (-), muchal rigidity (-)

Thorax:Symmetrical fusiformis. Epigastrial retraction (-). HR : 102 bpm, reguler, murmur (-). RR : 26 bpm, regular, crackles(-/-)Abdomen: Soepel. Peristaltic (+) normal. Liver was palpabled, 4 cm under arcus costae dextra. Spleen : S III - IV

Extremities : Pulse 102 bpm, regular, adequate pressure and volume, warm acral, CRT < 3”, paleness of plantar and palmar

(+/+)

Urogenital : Female, normal in appearance


P - IVFD D5% Nacl 0,45% 10 gtt/’ micro - Vit C 1 x 1

- Folic Acid 1 x 1 tab - Vit E 1 x 1

- Usual diet 1580 kcal + 48 gr of protein

Endocrinology

Modul

S : never get menstruate, hair airmpit and hair genital was not found.

O : sensorium : compos mentis T : 36.8 oC

Thorax : SF, retraction (-), HR : 102 bpm, reg, murmur (-). RR : 26 bpm, regular, crackles (-/-)

Puberty status : Tanner Stage A1M2P1

A : delayed puberty + short stature + thalasemia β mayor

P : waiting for bone age result

Hematology

modul

- IVFD Desferol 1000 mg IV

(dose : 50 mg/kgBW/day→ 24 kg x 50 mg = 1200 mg)

Available : 500 mg/vial

Therapy for 30

days

- Desferol 50 vial, 1x2 vial

- Vit C 1x1, 30 tab

- Vit E 1x1, 30 tab- Folic acid 1x1, 30 tab


17/18

DiscussionThe clinical manifestations of beta

thalasemia include

In this patient

• anemia

• Jaundice

• failure to thrive

• Hepatosplenomegaly

• abnormal facies

• fractures due to marrow

expansion and abnormal bone

structure, generalized

osteoporosis

• growth retardation,

delayed puberty, primary

amenorrhea in female, and otherendocrine disturbance secondary

to anemia and iron overload.

• the skin is pallor that

resuts from the anemia (Hb =3,2 mg/dl) , and

jaundice from hyperbilirubinemia.(total

bilirubin = 8,19 mg/dl, bilirubin direct = 3,83

mg/dl).

• hepatomegaly and splenomegaly.Hepatomegaly may be related to significant

extramedullary hematopoiesis or this patient who

have already receive routine blood transfusions may

have hepatomegaly or chronic hepatitis due to iron

overload.

Splenomegaly typically is observed as part of the

extramedullary hematopoiesis or as a hypertrophicresponse related to the extravascular hemolysis.

• delayed puberty ( Tanner A1M2P1)

and primary amenorrhea also short stature that

may results from endocrine disturbance as a result

of iron overload complications in routine transfused

patients. (hypogonadism (35-55%)).


18/18

• ---TERIMA KASIH ---

Therapy of beta thalasemia include In this patient

• Transfusion to maintain the pre-transfusion haemoglobin level

above 9 - 10,5 g/dL

• Chelation Therapy

Used: 1.Desferrioxamine

(Desferal) iv,sc

2.Deferiprone :oral • Small dose of vit C may enhance

the efficacy of iron chelation

• oxygen ½-1 L/minute• IVFD D5% Nacl 0,45% 10 gtt/i micro

• folic acid 1x1 tab

• vit c 1x1

• vit E 1x1

• PRC transfusionthe PRC transfusion is given 3 times because the

hemoglobin need to be maintained until above 9,5 mg/dl,

when the patient came the hb was 3,2 and after three times

tranfusion, the Hb level is 10,5 and already approaches the

goals of therapy

• desferol 1000 mg iviron chelator therapy desferol to prevent iron overload ( this

patient already have endocrine complications of iron

overload such as hypogonadism, short stature, primaryamenorhea)

• after patients discharged, the patients is given

therapy for 30 days desferol 50 vial 1x2 vial/day and

vit C 1x1, 30 tablets.

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